Submissions for variant NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala)

gnomAD frequency: 0.58403  dbSNP: rs10864198

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041665	SCV000065361	benign	not specified	2012-02-02	criteria provided, single submitter	clinical testing	Caucasian data = 3655/7020 (ESP data)
Eurofins Ntd Llc (ga)	RCV000041665	SCV000114876	benign	not specified	2013-03-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000041665	SCV000169757	benign	not specified	2011-07-05	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences	RCV000041665	SCV000317185	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001514999	SCV000884837	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Mendelics	RCV000986525	SCV001135540	benign	Usher syndrome type 2A	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514999	SCV001722979	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000986525	SCV001748503	benign	Usher syndrome type 2A	2021-07-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000041665	SCV003928750	benign	not specified	2023-04-16	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003887881	SCV004707891	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV001514999	SCV005287634	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000986525	SCV001457065	benign	Usher syndrome type 2A	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000041665	SCV001739981	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000041665	SCV001953702	benign	not specified		no assertion criteria provided	clinical testing